Is CDH Genetic? - Guest Speaker Meaghan Russell, MPH, PhD

Meet our guest speaker...

Meaghan Russell, MPH, PhD
Pediatric Surgical Research Laboratories
MassGeneral Hospital for Children

Click here to go to the CDH Q&A on Genetics!

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Because there is a massive amount of misinformation and inaccurate medical advice being posted lately on Facebook on different pages and groups and many parents seem confused about CDH and genetics and the possible causes of Congenital Diaphragmatic Hernia we have asked geneticist and CDH expert, Meaghan Russell, to guestspeak here on our Facebook page to answer any questions that you may have about possible causes, current research, familial CDH, etc.

Please post your questions as comments to this note and she will answer as her schedule allows. 

*** Please note that Meaghan cannot give medical advice or diagnosis your cherub via the internet! ***


 
Meaghan Russell and Mauro Longoni at the 2011 CDH Conference


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View videos from Meaghan's lectures at the CDH conference at http://www.cdhconference.org or http://www.youtube.com/cdhsupport

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FROM PNAS- http://www.pnas.org/content/109/8/2978.full

"Congenital diaphragmatic hernia candidate genes
derived from embryonic transcriptomes"

Congenital diaphragmatic hernia (CDH) is a common (1 in 3,000 live
births) major congenital malformation that results in significant
morbidity and mortality. The discovery of CDH loci using standard
genetic approaches has been hindered by its genetic heterogeneity.
We hypothesized that gene expression profiling of developing
embryonic diaphragms would help identify genes likely to be
associated with diaphragm defects. We generated a time series of
whole-transcriptome expression profiles from laser captured em-
bryonic mouse diaphragms at embryonic day (E)11.5 and E12.5
when experimental perturbations lead to CDH phenotypes, and
E16.5 when the diaphragm is fully formed. Gene sets defining
biologically relevant pathways and temporal expression trends
were identified by using a series of bioinformatic algorithms. These
developmental sets were then compared with a manually curated
list of genes previously shown to cause diaphragm defects in
humans and in mouse models. Our integrative filtering strategy
identified 27 candidates for CDH. We examined the diaphragms of
knockout mice for one of the candidate genes, pre–B-cell leukemia
transcription factor 1 (Pbx1), and identified a range of previously
undetected diaphragmatic defects. Our study demonstrates the
utility of genetic characterization of normal development as an in-
tegral part of a disease gene identification and prioritization strat-
egy for CDH, an approach that can be extended to other diseases
and developmental anomalies.

Click here to go to the CDH Q&A on Genetics!

CHERUBS 2010 Congenital Diaphragmatic Hernia Conference Lectures

CHERUBS 2010 International Member Conference

May 13 - 16, 2010
Orland, Florida


 
http://www.youtube.com/watch?v=C9a_VNS3rYI 
 

The hotel was wonderful, the cherubs miracles and we learned so much from the researchers and each other.  The weather was great.  We truly could not have asked for a better week!!!

The kids were adorable dressed as cherubs for our Save the Cherubs campaign - we got some AMAZING photos, including photos at Disney, with Mickey and Minnie, at the pool and the first Parade of Cherubs and CDH balloon release.  And they sung the CDH Kids Song for us again this year!

We met so many wonderful families!  The pizza party, introductions and each day was wonderful.  CDH Research Day included slide shows, information and research participation.   CDH Support Day included many round-table discussions on every topic dealing with CDH.  CDH Awareness Day included everyone learning about easy and fun ways to raise awareness.  Everyone left the conference with new friends, lots of new information and excited to go home and start working to help other CDH families!  It was an absolute pleasure to meet so many wonderful parents and cherubs (and grandparents and other family members too!) that we talk to on-line all year round.  Good-byes were definitely hard this year.

This was our 10th anniversary of the first international Congenital Diaphragmatic Hernia Conference, also held in Orlando.   We are so proud of our conferences and guest speakers!  Put together by volunteers and medical professionals with CDH experience and built upon 15 years of working together to offer the most services and information and support for families at our conferences - while keeping them fun and affordable. They aren't just CHERUBS members getting together and hanging out, they aren't conferences about CHERUBS at all - they are truly 100% about Congenital Diaphragmatic Hernia!    They have included so many incredible doctors and researchers.  We've also had representatives from CHERUBS UK, CHERUBS Australia, the Olivia Raine Foundation, Little Lambs, Real Hope for CDH and other great ACDHO organizations attend our conferences!   Not to mention members from all across the U.S. as well as England, Ireland, Australia, Italy, Mexico and Canada!

 

Many families participated in CDH genetic studies by giving blood samples at the conference.  We were fortunate to have 5 researchers participate!  Not only did they speak on their research and share new information with us but they sat in on round-table discussions and learned from parents as well.   We will post more about the researchers and research and how you can participate in the next few days!  :)

CHERUBS also participated in 2 medical conferences and we have quite a bit of CDH research and projects going on that we will post about soon!  It was WONDERFUL to see the surgeons wearing our ribbon and buttons, to hear all the lectures on CDH, to talk to them about CDH and share our own information with them.  So many came up to us to thank us for our work, gather materials for their patients' families, to tell us they signed the petition against the trademark and were rooting for us, to ask us questions about how to deal with CDH families.    One conference even had a member wearing wings during their awards ceremony, escorting award winners to the podium.   This same conference had a speech about CDH and recognized CHERUBS and our work - we were even cited as their reference for a lot of their research information.   We even found a few sponsors along the way.   CHERUBS is the first charity to ever attend these events, we are so honored to be a part of both conferences!

It was a wonderful, productive, supportive and very beneficial week for the CDH Community!  More photos, details and videos coming soon!

We hope to see everyone next year!

 

 

 

2010 CHERUBS Conference Lectures


The quality isn't exactly professional but we try hard to bring you as much information as possible through video! 



Meaghann Russell, MPH and Mauro Longoni, MD
(MassGeneral CDH Clinic, Boston, MA)
CDH and Genetics

Part 1 - http://www.youtube.com/watch?v=07QyNx68uBk

The rest of the videos are available to view at http://www.cherubsconference.org/2010.php

Marc Arkovitz, MD and Julia Wynn
(New York Presbyterian Columbia / DHREAMS)
CDH and Genetics

 

Part 1 - http://www.youtube.com/watch?v=oahzKNYi8Qg

The rest of the videos are available to view at http://www.cherubsconference.org/2010.php

Bella Belleza-Bascon, RN, MHA
(Texas Children's Hospital / Fetal Center, Baylor College of Medicine)
CDH and Genetics

Part 1 - http://www.youtube.com/watch?v=sX5jNEmeKAw

The rest of the videos are available to view at http://www.cherubsconference.org/2010.php

Conference Schedule:

Thursday, May 13, 2010

7:00 - 9:00 pm - Pizza Party and Introductions

Friday, May 14, 2010 - CDH Support

8:00 am - 8:45 am Round Table Discussions Session 1

• For CDH Survivors (choose one)
• Physical and Occupational Therapies
  
• Feeding Issues
  
• For Grieving CDH Families (choose one)
• Faith & Doubts In Grief
  
• Dealing With Anger
  

9:00 am - 9:45 am Round Table Discussions Session 2

• For CDH Survivors (choose one)
• IEPs for School Age Children
• Early Intervention for Infants & Toddlers
• For Grieving CDH Families (choose one)
• Grief and Siblings
• Dealing With Special Days
  

10:00 am - 10:45 am Round Table Discussions Session 3

• For CDH Survivors (choose one)
• Dealing with Family & Friends
• Marriage & Having a Special Needs Child
• For Grieving CDH Families (choose one)
• Dealing with Family & Friends
• Marriage & Grief

11:00 am - 11:45 am Round Table Discussions Session 4

• For CDH Survivors (choose one)
• Pregnancy After CDH
• Helping Other CDH Families
• For Grieving CDH Families (choose one)
• Pregnancy After CDH
• Creating Something Good From Sadness

Saturday, May 15, 2010 - CDH Research

8:00 am - 11:00 am - Guest Speakers On Current CDH Research Studies

8:00 am - 9:00 am  - Meaghan Russell and Mauro Longani from Mass General

9:00 am - 10:00 am  - Speaker Information coming soon!

10:00 am - 11:00 am  - Speaker Information coming soon!

11:00 am - 12:00 pm  View Research Booths, Sign up for CDH Research Studies

Sunday, May 16, 2010 - CDH Awareness

8:00 am - 8:30 am - "Current and future global efforts to raise CDH Awareness" by Dawn Williamson, President & Founder

8:30 am - 9:30 am - Group discussion on how we can raise more CDH Awareness as a community

9:30 am - 10:30 am - Group disccussion on how families can raise CDH Awareness in honor and in memory of individual cherubs.

10:30 am - 11:00 am - Saying Good-byes 

Congenital Diapraghmatic Hernia: Outcomes

Description of the outcome possibilities for a fetus with Congenital Diapraghmatic Hernia (CDH). Presented by Doug Miniati MD, Assistant Professor, UCSF Fetal Treatment Center

Congenital Diapraghmatic Hernia: State of Current & Future Research

The state of current research into Congenital Diapraghmatic Hernia (CDH) and what possible research opportunities lay in the future. Presented by Doug Miniati MD, Assistant Professor, UCSF Fetal Treatment Center.

CHERUBS 2008 CDH Conference Guest Speakers - Meaghann Russell, MPH and Mauro Longoni, MD

CHERUBS 2008 International Member Conference for families affected by Congenital Diaphragmatic Hernia.

Meaghann Russell, MPH and Mauro Longoni, MD (MassGeneral CDH Clinic, Boston, MA) speech on CDH and Genetics.

This only includes the speech. This does not include questions, comments or dialogue with members (you have to attend our conference to hear and participate in that!).


Part 1



Part 2



Part 3



Part 4



Part 5



Part 6

For information on this year's conference you can visit http://www.cherubsconference.org

For information on CHERUBS and CDH please visit http://www.cdhsupport.org